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Article

Italian familial defective apolipoprotein B patients share a unique haplotype with other Caucasian patients.

Clinical and experimental medicine - 1 Sept 2001

Cefalù A B, Barbagallo C M, Sesti E, Caldarella R, Polizzi F, Marino G, Noto D, Rolleri M, Travali S, Scalisi G, Notarbartolo A, Corsini A, Bertolini S, Averna M R

Abstract excerpt

Familial defective apolipoprotein (apo) B-100 together with familial hypercholesterolemia are the two common genetic conditions that cause hypercholesterolemia. Familial defective apolipoprotein B-100 is due to mutations around codon 3500 of the apo B gene. The most-characterized mutation is a G>A transition at nucleotide 10,708 that results in the substitution of arginine by glutamine at codon 3500 (Apo B...

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PMID: 11833852
DOI: 10.1007/s10238-001-8027-y

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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